Variant report

Variant	rs9329175
Chromosome Location	chr8:8866661-8866662
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:8863320-8872107	K562	blood:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:8866297..8868833-chr8:8887524..8890339,2	K562	blood:
2	chr8:8859707..8862059-chr8:8864809..8869173,3	MCF-7	breast:
3	chr8:8865815..8868518-chr8:8878395..8880602,2	K562	blood:
4	chr8:8859129..8863024-chr8:8863037..8866949,8	K562	blood:
5	chr8:8865434..8867706-chr8:8868292..8869978,2	MCF-7	breast:
6	chr8:8866252..8868654-chr8:8871206..8873425,2	MCF-7	breast:
7	chr8:8856242..8858466-chr8:8864849..8867398,2	K562	blood:
8	chr8:8748349..8752697-chr8:8864961..8869329,4	K562	blood:
9	chr8:8848435..8850169-chr8:8864195..8867321,3	K562	blood:
10	chr8:8859158..8867027-chr8:8867199..8874373,17	K562	blood:

No data

Variant related genes	Relation type
ERI1	TF binding region
ENSG00000104626	Chromatin interaction
ENSG00000147324	Chromatin interaction

Extended variants
information (count: 104 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:97)

rs_ID	r²[population]
rs10087416	1.00[CHB][hapmap]
rs10091588	1.00[ASN][1000 genomes]
rs10217044	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1036082	1.00[ASN][1000 genomes]
rs1045527	0.96[CEU][hapmap];0.83[GIH][hapmap];0.84[MEX][hapmap];0.82[TSI][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1045529	0.85[CEU][hapmap]
rs11774244	1.00[ASN][1000 genomes]
rs11775788	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11779660	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11779804	1.00[ASN][1000 genomes]
rs11780338	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11780774	1.00[ASN][1000 genomes]
rs11781203	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11784750	1.00[ASN][1000 genomes]
rs11785634	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11785819	0.96[CEU][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11787026	0.89[CEU][hapmap];0.84[TSI][hapmap];0.82[AMR][1000 genomes]
rs12114954	0.89[CEU][hapmap];0.82[AMR][1000 genomes]
rs13250781	1.00[ASN][1000 genomes]
rs13252797	0.96[CEU][hapmap];0.93[LWK][hapmap];0.85[MEX][hapmap];0.95[TSI][hapmap];0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13263364	1.00[CHB][hapmap]
rs13271797	0.96[CEU][hapmap];0.81[GIH][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13277114	1.00[ASN][1000 genomes]
rs1530484	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17155334	1.00[CHB][hapmap]
rs17646197	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17700611	1.00[ASN][1000 genomes]
rs17701980	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17702602	0.85[CEU][hapmap]
rs2288671	0.82[CEU][hapmap]
rs2409120	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28482034	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs28520356	1.00[ASN][1000 genomes]
rs28572014	1.00[ASN][1000 genomes]
rs28665409	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2915251	0.82[CEU][hapmap]
rs2956244	0.84[CEU][hapmap]
rs2979247	0.82[CEU][hapmap]
rs2979256	0.82[CEU][hapmap]
rs2979265	0.82[CEU][hapmap]
rs34004903	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34251783	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34293316	1.00[ASN][1000 genomes]
rs3855900	0.82[AMR][1000 genomes]
rs3895823	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4840376	1.00[ASN][1000 genomes]
rs4840389	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4840391	1.00[ASN][1000 genomes]
rs4841083	0.88[CEU][hapmap]
rs55824072	1.00[ASN][1000 genomes]
rs56109025	1.00[ASN][1000 genomes]
rs56349323	1.00[ASN][1000 genomes]
rs56400435	1.00[ASN][1000 genomes]
rs57280925	1.00[ASN][1000 genomes]
rs59041878	1.00[ASN][1000 genomes]
rs59257214	1.00[ASN][1000 genomes]
rs60551984	1.00[ASN][1000 genomes]
rs61397430	1.00[ASN][1000 genomes]
rs61730232	1.00[ASN][1000 genomes]
rs62492947	1.00[ASN][1000 genomes]
rs62493174	1.00[ASN][1000 genomes]
rs62495491	1.00[ASN][1000 genomes]
rs62495539	1.00[ASN][1000 genomes]
rs6601280	0.88[CEU][hapmap];0.86[TSI][hapmap];0.80[AMR][1000 genomes]
rs6601281	0.80[AMR][1000 genomes]
rs6601282	1.00[CHB][hapmap]
rs6748	0.96[CEU][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6981610	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6981745	1.00[ASN][1000 genomes]
rs6982619	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6983877	0.89[CEU][hapmap];0.82[AMR][1000 genomes]
rs6986044	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6987107	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6987558	0.82[CEU][hapmap]
rs6987569	1.00[ASN][1000 genomes]
rs6996374	1.00[ASN][1000 genomes]
rs7001187	1.00[ASN][1000 genomes]
rs7005056	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7017868	0.96[CEU][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73518330	1.00[ASN][1000 genomes]
rs73518392	1.00[ASN][1000 genomes]
rs7357482	1.00[ASN][1000 genomes]
rs73662247	1.00[ASN][1000 genomes]
rs7462373	0.81[AMR][1000 genomes]
rs7814328	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7822129	1.00[ASN][1000 genomes]
rs7826478	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7828944	1.00[ASN][1000 genomes]
rs7830266	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7843024	1.00[ASN][1000 genomes]
rs7843154	1.00[ASN][1000 genomes]
rs7843369	1.00[ASN][1000 genomes]
rs7843789	1.00[ASN][1000 genomes]
rs7846007	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs895253	1.00[ASN][1000 genomes]
rs9329176	1.00[ASN][1000 genomes]
rs9650616	0.96[CEU][hapmap];0.97[GIH][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890331	chr8:8093240-8971100	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv917117	chr8:8621658-9313799	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv831229	chr8:8751523-8926235	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv610205	chr8:8799111-8891644	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	n/a
5	nsv1022468	chr8:8857853-9209167	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	nsv539460	chr8:8857853-9209167	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
7	nsv817373	chr8:8857854-9361049	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs9329175	PPP1R3B	cis	cerebellum	SCAN
rs9329175	DEFB134	cis	cerebellum	SCAN
rs9329175	CTSB	cis	cerebellum	SCAN
rs9329175	RP11-10A14.5	cis	Whole Blood	GTEx
rs9329175	SGK223	cis	Thyroid	GTEx
rs9329175	THEX1	Cis_1M	lymphoblastoid	RTeQTL
rs9329175	RP11-62H7.2	cis	Thyroid	GTEx
rs9329175	FLJ10661	cis	cerebellum	SCAN
rs9329175	MFHAS1	cis	cerebellum	SCAN

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8861200-8892400	Weak transcription	Aorta	Aorta
2	chr8:8861400-8907000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr8:8861600-8868200	Weak transcription	Brain Substantia Nigra	brain
4	chr8:8861600-8870600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr8:8861600-8876200	Weak transcription	Esophagus	oesophagus
6	chr8:8861600-8878600	Weak transcription	Colon Smooth Muscle	Colon
7	chr8:8861600-8885600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:8861800-8867200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr8:8861800-8867200	Weak transcription	Fetal Muscle Leg	muscle
10	chr8:8861800-8869000	Weak transcription	Fetal Intestine Small	intestine
11	chr8:8861800-8870400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr8:8861800-8870400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr8:8861800-8870400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr8:8861800-8870400	Weak transcription	Fetal Stomach	stomach
15	chr8:8861800-8870400	Weak transcription	Psoas Muscle	Psoas
16	chr8:8861800-8870600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr8:8861800-8870600	Weak transcription	Thymus	Thymus
18	chr8:8861800-8871000	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr8:8861800-8871000	Weak transcription	HSMMtube	muscle
20	chr8:8861800-8871400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr8:8861800-8871600	Weak transcription	Rectal Smooth Muscle	rectum
22	chr8:8861800-8874800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr8:8861800-8875000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr8:8861800-8875000	Weak transcription	Gastric	stomach
25	chr8:8861800-8877800	Weak transcription	Right Ventricle	heart
26	chr8:8861800-8881800	Weak transcription	Fetal Kidney	kidney
27	chr8:8861800-8883400	Weak transcription	Spleen	Spleen
28	chr8:8861800-8883600	Weak transcription	Small Intestine	intestine
29	chr8:8861800-8885200	Weak transcription	Brain Cingulate Gyrus	brain
30	chr8:8861800-8887200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr8:8861800-8887400	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr8:8861800-8890000	Weak transcription	Stomach Smooth Muscle	stomach
33	chr8:8861800-8891400	Weak transcription	Brain Angular Gyrus	brain
34	chr8:8861800-8891800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr8:8861800-8892000	Weak transcription	Brain Anterior Caudate	brain
36	chr8:8861800-8892200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr8:8861800-8892200	Weak transcription	Ovary	ovary
38	chr8:8861800-8893800	Weak transcription	Fetal Brain Male	brain
39	chr8:8861800-8897800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr8:8861800-8915600	Weak transcription	Pancreas	Pancrea
41	chr8:8862000-8868800	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr8:8862000-8869000	Weak transcription	Adipose Nuclei	Adipose
43	chr8:8862000-8869000	Weak transcription	Fetal Brain Female	brain
44	chr8:8862000-8869200	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr8:8862000-8869600	Weak transcription	Fetal Lung	lung
46	chr8:8862000-8870400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr8:8862200-8869000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr8:8862200-8869000	Weak transcription	Primary B cells from cord blood	blood
49	chr8:8862200-8870600	Weak transcription	Left Ventricle	heart
50	chr8:8862200-8870600	Weak transcription	Lung	lung

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